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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618406
http://purl.bioontology.org/ontology/OMIM/618406
|
|---|---|
| Preferred Name | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 |
| Synonyms |
OBESITY
MC4R DEFICIENCY
BMIQ20
MELANOCORTIN 4 RECEPTOR DEFICIENCY
OBESITY, RESISTANCE TO
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
OBESITY
MC4R DEFICIENCY
BMIQ20
MELANOCORTIN 4 RECEPTOR DEFICIENCY
OBESITY, RESISTANCE TO
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|---|---|
| prefLabel | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
|
| Gene Symbol |
BMIQ20
MC4R
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| Scope Statement | Gain-of-function MC4R variants are associated with resistance to obesity [MISCELLANEOUS]
Homozygotes have higher mean percentage body fat than heterozygotes [MISCELLANEOUS]
Variable penetrance [MISCELLANEOUS]
MC4R deficiency is associated with severe early-onset obesity [MISCELLANEOUS]
Variable associated features [MISCELLANEOUS]
Increased body weight within 1st year of life in most patients [MISCELLANEOUS]
Caused by mutation in the melanocortin-4 receptor (MC4R, 155541.0001) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T033
|
| Gene Locus | 18q22
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 618406
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C5193151
C4759928
C4054546
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |